Canonical Allele Identifier: CA356146368

Gene: EVC2

Linked Data - Variant Effect Evidence

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.5562922G>T , CM000666.2:g.5562922G>T	GRCh38
NC_000004.11:g.5564649G>T , CM000666.1:g.5564649G>T	GRCh37
NC_000004.10:g.5615550G>T	NCBI36
NG_015821.1:g.151627C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000344408.10:c.3853C>A MANE Select	ENSP00000342144.5:p.Leu1285Met
ENST00000310917.6:c.3613C>A	ENSP00000311683.2:p.Leu1205Met
ENST00000344408.9:c.3853C>A	ENSP00000342144.5:p.Leu1285Met
ENST00000475313.5:c.3419+2336C>A	ENSP00000431981.1:n.3419+2336C>A
ENST00000509670.1:c.*2246C>A	ENSP00000423876.1:n.*2246C>A
NM_001166136.1:c.3613C>A	NP_001159608.1:p.Leu1205Met
NM_147127.4:c.3853C>A	NP_667338.3:p.Leu1285Met
XM_011513392.1:c.3862C>A	XP_011511694.1:p.Leu1288Met
XM_011513393.1:c.3668+2336C>A	XP_011511695.1:n.3668+2336C>A
XM_011513394.1:c.3622C>A	XP_011511696.1:p.Leu1208Met
XM_017007736.1:c.3613C>A	XP_016863225.1:p.Leu1205Met
XM_017007737.1:c.3613C>A	XP_016863226.1:p.Leu1205Met
XM_017007739.1:c.2173C>A	XP_016863228.1:p.Leu725Met
XM_024453893.1:c.2173C>A	XP_024309661.1:p.Leu725Met
XR_001741141.1:n.3703C>A
NM_147127.5:c.3853C>A MANE Select	NP_667338.3:p.Leu1285Met
NM_001166136.2:c.3613C>A	NP_001159608.1:p.Leu1205Met